Cellosaurus cell line TTD2PV (CVCL

Cross-references
Cell line name	TTD2PV
Synonyms	TrichoThioDystrophy 2 PaVia
Accession	CVCL_RU72
Resource Identification Initiative	To cite this cell line use: TTD2PV (RRID:CVCL_RU72)
Comments	From: Istituto di Genetica Biochimica ed Evoluzionistica (IGBE); Pavia; Italy. Population: Caucasian. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg112His (c.335G>A); ClinVar=VCV000016784; Zygosity=Homozygous (PubMed=9758621).
Disease	Trichothiodystrophy 1, photosensitive (NCIt: C156433) Trichothiodystrophy (ORDO: Orphanet_33364)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	16Y
Category	Finite cell line
Publications	PubMed=9758621; DOI=10.1086/302063; PMCID=PMC1377495 Botta E., Nardo T., Broughton B.C., Marinoni S., Lehmann A.R., Stefanini M. Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity. Am. J. Hum. Genet. 63:1036-1048(1998)
Cell line databases/resources	CLO; CLO_0009425 CLDB; cl4552
Encyclopedic resources	Wikidata; Q54973261
Entry history
Entry creation	05-Mar-2018
Last entry update	19-Dec-2024
Version number	10